Name: rs367893933
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs367893933

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:233682176 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: C>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.000011 (3/264690, TOPMED)
G=0.000056 (14/251234, GnomAD_exome)
G=0.000014 (2/140302, GnomAD) (+ 5 more)
G=0.000033 (4/121408, ExAC)
G=0.00000 (0/14050, ALFA)
G=0.00008 (1/13006, GO-ESP)
G=0.0003 (1/3298, PRJNA289433)
G=0.003 (1/304, FINRISK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: UGT1A7 : Stop Gained
UGT1A10 : Intron Variant
UGT1A8 : Intron Variant (+ 1 more)
UGT1A9 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	14050	C=1.00000	G=0.00000
European	Sub	9690	C=1.0000	G=0.0000
African	Sub	2898	C=1.0000	G=0.0000
African Others	Sub	114	C=1.000	G=0.000
African American	Sub	2784	C=1.0000	G=0.0000
Asian	Sub	112	C=1.000	G=0.000
East Asian	Sub	86	C=1.00	G=0.00
Other Asian	Sub	26	C=1.00	G=0.00
Latin American 1	Sub	146	C=1.000	G=0.000
Latin American 2	Sub	610	C=1.000	G=0.000
South Asian	Sub	98	C=1.00	G=0.00
Other	Sub	496	C=1.000	G=0.000

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.999989	G=0.000011
gnomAD - Exomes	Global	Study-wide	251234	C=0.999944	G=0.000056
gnomAD - Exomes	European	Sub	135186	C=0.999896	G=0.000104
gnomAD - Exomes	Asian	Sub	49006	C=1.00000	G=0.00000
gnomAD - Exomes	American	Sub	34588	C=1.00000	G=0.00000
gnomAD - Exomes	African	Sub	16256	C=1.00000	G=0.00000
gnomAD - Exomes	Ashkenazi Jewish	Sub	10074	C=1.00000	G=0.00000
gnomAD - Exomes	Other	Sub	6124	C=1.0000	G=0.0000
gnomAD - Genomes	Global	Study-wide	140302	C=0.999986	G=0.000014
gnomAD - Genomes	European	Sub	75974	C=0.99999	G=0.00001
gnomAD - Genomes	African	Sub	42058	C=1.00000	G=0.00000
gnomAD - Genomes	American	Sub	13660	C=0.99993	G=0.00007
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=1.0000	G=0.0000
gnomAD - Genomes	East Asian	Sub	3134	C=1.0000	G=0.0000
gnomAD - Genomes	Other	Sub	2152	C=1.0000	G=0.0000
ExAC	Global	Study-wide	121408	C=0.999967	G=0.000033
ExAC	Europe	Sub	73350	C=0.99995	G=0.00005
ExAC	Asian	Sub	25166	C=1.00000	G=0.00000
ExAC	American	Sub	11578	C=1.00000	G=0.00000
ExAC	African	Sub	10406	C=1.00000	G=0.00000
ExAC	Other	Sub	908	C=1.000	G=0.000
Allele Frequency Aggregator	Total	Global	14050	C=1.00000	G=0.00000
Allele Frequency Aggregator	European	Sub	9690	C=1.0000	G=0.0000
Allele Frequency Aggregator	African	Sub	2898	C=1.0000	G=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	C=1.000	G=0.000
Allele Frequency Aggregator	Other	Sub	496	C=1.000	G=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	C=1.000	G=0.000
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	G=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=1.00	G=0.00
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.99992	G=0.00008
GO Exome Sequencing Project	European American	Sub	8600	C=0.9999	G=0.0001
GO Exome Sequencing Project	African American	Sub	4406	C=1.0000	G=0.0000
MxGDAR/Encodat-PGx	Global	Study-wide	3298	C=0.9997	G=0.0003
MxGDAR/Encodat-PGx	MxGDAR	Sub	3298	C=0.9997	G=0.0003
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.997	G=0.003

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 2	NC_000002.12:g.233682176C>G
GRCh37.p13 chr 2	NC_000002.11:g.234590822C>G
UGT1A RefSeqGene	NG_002601.2:g.97433C>G

Gene: UGT1A10, UDP glucuronosyltransferase family 1 member A10 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A10 transcript	NM_019075.4:c.855+44799C>G	N/A	Intron Variant

Gene: UGT1A8, UDP glucuronosyltransferase family 1 member A8 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A8 transcript	NM_019076.5:c.855+63614C>G	N/A	Intron Variant

Gene: UGT1A9, UDP glucuronosyltransferase family 1 member A9 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A9 transcript	NM_021027.3:c.855+9387C>G	N/A	Intron Variant

Gene: UGT1A7, UDP glucuronosyltransferase family 1 member A7 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A7 transcript	NM_019077.3:c.239C>G	S [TCA] > * [TGA]	Coding Sequence Variant
UDP-glucuronosyltransferase 1A7 precursor	NP_061950.2:p.Ser80Ter	S (Ser) > * (Ter)	Stop Gained

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	C=	G
GRCh38.p14 chr 2	NC_000002.12:g.233682176=	NC_000002.12:g.233682176C>G
GRCh37.p13 chr 2	NC_000002.11:g.234590822=	NC_000002.11:g.234590822C>G
UGT1A RefSeqGene	NG_002601.2:g.97433=	NG_002601.2:g.97433C>G
UGT1A7 transcript	NM_019077.2:c.239=	NM_019077.2:c.239C>G
UGT1A7 transcript	NM_019077.3:c.239=	NM_019077.3:c.239C>G
UDP-glucuronosyltransferase 1A7 precursor	NP_061950.2:p.Ser80=	NP_061950.2:p.Ser80Ter
UGT1A10 transcript	NM_019075.2:c.855+44799=	NM_019075.2:c.855+44799C>G
UGT1A10 transcript	NM_019075.4:c.855+44799=	NM_019075.4:c.855+44799C>G
UGT1A8 transcript	NM_019076.4:c.855+63614=	NM_019076.4:c.855+63614C>G
UGT1A8 transcript	NM_019076.5:c.855+63614=	NM_019076.5:c.855+63614C>G
UGT1A9 transcript	NM_021027.2:c.855+9387=	NM_021027.2:c.855+9387C>G
UGT1A9 transcript	NM_021027.3:c.855+9387=	NM_021027.3:c.855+9387C>G

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

13 SubSNP, 8 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	NHLBI-ESP	ss712492862	Apr 25, 2013 (138)
2	EVA_FINRISK	ss1584024785	Apr 01, 2015 (144)
3	EVA_EXAC	ss1686797983	Apr 01, 2015 (144)
4	HUMAN_LONGEVITY	ss2240158869	Dec 20, 2016 (150)
5	GNOMAD	ss2733429866	Nov 08, 2017 (151)
6	GNOMAD	ss2746909430	Nov 08, 2017 (151)
7	GNOMAD	ss2787705248	Nov 08, 2017 (151)
8	AFFY	ss2985203857	Nov 08, 2017 (151)
9	ILLUMINA	ss3652535766	Oct 11, 2018 (152)
10	ILLUMINA	ss3653971874	Oct 11, 2018 (152)
11	EVA	ss3823868604	Apr 25, 2020 (154)
12	EVA	ss3984447996	Apr 27, 2021 (155)
13	TOPMED	ss4548814089	Apr 27, 2021 (155)
14	ExAC	NC_000002.11 - 234590822	Oct 11, 2018 (152)
15	FINRISK	NC_000002.11 - 234590822	Apr 25, 2020 (154)
16	gnomAD - Genomes	NC_000002.12 - 233682176	Apr 27, 2021 (155)
17	gnomAD - Exomes	NC_000002.11 - 234590822	Jul 13, 2019 (153)
18	GO Exome Sequencing Project	NC_000002.11 - 234590822	Oct 11, 2018 (152)
19	MxGDAR/Encodat-PGx	NC_000002.11 - 234590822	Apr 27, 2021 (155)
20	TopMed	NC_000002.12 - 233682176	Apr 27, 2021 (155)
21	ALFA	NC_000002.12 - 233682176	Apr 27, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
6707384, 21246, 2498660, 327001, 997, ss712492862, ss1584024785, ss1686797983, ss2733429866, ss2746909430, ss2787705248, ss2985203857, ss3652535766, ss3653971874, ss3823868604, ss3984447996	NC_000002.11:234590821:C:G	NC_000002.12:233682175:C:G	(self)
94445047, 352636968, 5042230392, ss2240158869, ss4548814089	NC_000002.12:233682175:C:G	NC_000002.12:233682175:C:G	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs367893933

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs367893933